Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

J Inherit Metab Dis. 1997 Jul;20(3):427-31. doi: 10.1023/a:1005319120751.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenases / deficiency*
  • Adolescent
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Glucose Tolerance Test
  • Growth Disorders / enzymology
  • Growth Disorders / genetics
  • Humans
  • Mitochondria, Muscle / enzymology
  • Muscle Hypotonia / enzymology
  • Muscle Hypotonia / genetics
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Muscular Diseases / enzymology*
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology
  • Respiratory Tract Diseases / enzymology
  • Respiratory Tract Diseases / genetics
  • Respiratory Tract Diseases / physiopathology
  • Scoliosis / enzymology*
  • Scoliosis / genetics

Substances

  • Acyl-CoA Dehydrogenases